Polymorphism in the Promoter and Exon 1 of the Cytotoxic T Lymphocyte Antigen-4 Gene Associated with Autoimmune Thyroid Disease in Koreans

Thyroid ◽  
2000 ◽  
Vol 10 (6) ◽  
pp. 453-459 ◽  
Author(s):  
Young Joo Park ◽  
Hyun Kyung Chung ◽  
Do Joon Park ◽  
Won Bae Kim ◽  
Sun Wook Kim ◽  
...  
2009 ◽  
Vol 70 (10) ◽  
pp. 820-824 ◽  
Author(s):  
Ajda Bicek ◽  
Katja Zaletel ◽  
Simona Gaberscek ◽  
Edvard Pirnat ◽  
Blaz Krhin ◽  
...  

2003 ◽  
Vol 31 (1) ◽  
pp. 21-36 ◽  
Author(s):  
DA Chistiakov ◽  
RI Turakulov

Autoimmune thyroid disease (AITD) occurs in two common forms: Graves' disease and Hashimoto thyroiditis. On the basis of functional and experimental data, it has been suggested that the gene encoding cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) is a candidate gene for conferring susceptibility to thyroid autoimmunity. In this review, we critically evaluate the evidence for pathogenetic involvement of CTLA-4 in the various forms of AITD and focus on the possible role of genetic variation of the CTLA4 locus. Population genetics data strongly suggest a role for the CTLA4 region in susceptibility to AITD. However, further functional studies are required to understand the significance of CTLA4 polymorphisms in the pathogenic mechanism of AITD.


2007 ◽  
Vol 92 (8) ◽  
pp. 3162-3170 ◽  
Author(s):  
Fotini K. Kavvoura ◽  
Takashi Akamizu ◽  
Takuya Awata ◽  
Yoshiyuki Ban ◽  
Dimitry A. Chistiakov ◽  
...  

2006 ◽  
Vol 34 (6) ◽  
pp. 585-595 ◽  
Author(s):  
J Zhang ◽  
M Zhang ◽  
Y Wang ◽  
B Shi ◽  
B Zhu ◽  
...  

2004 ◽  
Vol 89 (7) ◽  
pp. 3474-3476 ◽  
Author(s):  
Anne Blomhoff ◽  
Benedicte A. Lie ◽  
Anne G. Myhre ◽  
E. Helen Kemp ◽  
Anthony P. Weetman ◽  
...  

Abstract The cytotoxic T lymphocyte antigen-4 (CTLA4) gene on chromosome 2q33 encodes a key regulator in the adaptive immune system. The CTLA4 surface molecule is expressed on activated T lymphocytes and involved in down-regulation of the immune response. Previous studies on a possible association between autoimmune Addison’s disease and CTLA4 polymorphisms have shown conflicting results. A recent study identified new candidate polymorphisms in the CTLA4 region, influencing gene splicing and thereby the relative abundance of soluble CTLA4. We genotyped 134 patients with Addison’s disease and 413 healthy controls from Norway and United Kingdom for these newly identified polymorphisms. Our data demonstrate that the same polymorphisms that have recently been demonstrated to confer susceptibility to autoimmune thyroid disease and type 1 diabetes also confer susceptibility to Addison’s disease. This finding suggests that polymorphisms in CTLA4 confer general risk to develop autoimmunity and identifies a potential therapeutic target in the prevention of autoimmune endocrine disorders.


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